Details of Disease | DrugMAP

General Information of Disease (ID: DISU4K4N)

Disease Name	GRACILE syndrome
Synonyms	FLNMS; Finnish lethal neonatal metabolic syndrome; lactic acidosis, Finnish, with hepatic hemosiderosis; Growth retardation, amino aciduria, cholestasis, iron overload, lactic acidosis, and early death; Growth retardation, aminoaciduria, cholestasis, iron overload, lactic acidosis and early death; Fellman syndrome; Finnish lactic acidosis with hepatic hemosiderosis; Fellman disease; Growth restriction-aminoaciduria-cholestasis-iron overload-lactic acidosis-early death syndrome; gracile syndrome; Growth delay-aminoaciduria-cholestasis-iron overload-lactic acidosis-early death syndrome
Definition	GRACILE syndrome is an inherited lethal mitochondrial disorder characterized by fetal growth restriction (GR), aminoaciduria (A), cholestasis (C), iron overload (I), lactacidosis (L), and early death (E).
Disease Hierarchy	DISKAHA3: Mitochondrial disease DISYKSRF: Genetic disease DISU4K4N: GRACILE syndrome
Disease Identifiers	MONDO ID MONDO_0011308 MESH ID C537934 UMLS CUI C1864002 OMIM ID 603358 MedGen ID 400428 Orphanet ID 53693 SNOMED CT ID 703388005

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
BCS1L	OT5PY5CY	Definitive	Autosomal recessive	[1]
------------------------------------------------------------------------------------

References

1	GRACILE syndrome, a lethal metabolic disorder with iron overload, is caused by a point mutation in BCS1L. Am J Hum Genet. 2002 Oct;71(4):863-76. doi: 10.1086/342773. Epub 2002 Sep 5.